MYMX

Chr 6p21.1

myomixer, myoblast fusion factor

Aliases:: MINION
MANE:: ENST00000573382.3

OMIM: 619912 ↗NCBI: 101929726 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MYMX · A0A1B0GTQ4

v62025-08-01

Predicted Aligned Error matrix for MYMX — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.0/ 100

Confident

84 residues

Confidence breakdown

Very high(≥ 90)2%
Confident(70–90)61%
Low(50–70)36%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Carey-Fineman-Ziter syndrome
0.61
Carey-Fineman-Ziter syndrome
0.38
lymphatic system disorder
0.09
ovarian neoplasm
0.08
Congenital myasthenic syndromes
0.07
Postsynaptic congenital myasthenic syndromes
0.07
Hereditary proximal myopathy with early respiratory failure
0.07
Bethlem myopathy
0.07
congenital myasthenic syndromes with glycosylation defect
0.07
Distal myopathy, Nonaka type
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein myomixer

Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28569745, PubMed:35642635). Involved in membrane fusion downstream of the lipid mixing step mediated by MYMK (By similarity). Acts by generating membrane stresses via its extracellular C-terminus, leading to drive fusion pore formation. Acts independently of MYMK (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity)